Variant Summary
- Also known as
- ASP816VAL,RS121913507
- HGVS
- NM_000222.2:c.2447A>T,NP_000213.1:p.Asp816Val,ENST00000288135.5:c.2447A>T,NC_000004.11:g.55599321A>T
- Variant Type(s)
- missense_variant
- Evidence Items
- 5
Evidence Level Distribution
Level B: 3Level C: 1Level D: 1
Evidence Items
Showing CIViC evidence rows where gene = KIT and variant = D816V.
| Level | Type | Direction | Significance | Disease | Drugs | Rating |
|---|---|---|---|---|---|---|
| B | Predictive | Supports | Sensitivity/Response | Systemic Mastocytosis | Midostaurin | 4 |
| B | Prognostic | Supports | Poor Outcome | Systemic Mastocytosis | 4 | |
| B | Prognostic | Supports | Poor Outcome | Acute Myeloid Leukemia | 4 | |
| D | Predictive | Supports | Resistance | Cancer | Imatinib | 2 |
| C | Predictive | Supports | Resistance | Cancer | Imatinib,Dasatinib | 2 |